Canonical Allele Identifier: CA351413041

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707166A>G (hg19) ; chr2:g.241767751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767751A>G , CM000664.2:g.241767751A>G	GRCh38
NC_000002.11:g.242707166A>G , CM000664.1:g.242707166A>G	GRCh37
NC_000002.10:g.242355839A>G	NCBI36
NG_012012.1:g.38137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1348A>G MANE Select	ENSP00000315351.4:p.Ser450Gly
ENST00000321264.8:c.1348A>G	ENSP00000315351.4:p.Ser450Gly
ENST00000400769.6:c.*98A>G	ENSP00000383580.2:n.*98A>G
ENST00000403782.5:c.946A>G	ENSP00000384723.1:p.Ser316Gly
ENST00000436747.5:c.*2584A>G	ENSP00000400212.1:n.*2584A>G
ENST00000445308.1:c.744A>G
ENST00000468064.5:n.1238A>G
ENST00000470343.5:n.829A>G
ENST00000473126.1:n.547A>G
ENST00000486953.5:n.1172A>G
ENST00000610344.1:c.*192A>G	ENSP00000481906.1:n.*192A>G
NM_001287249.1:c.946A>G	NP_001274178.1:p.Ser316Gly
NM_152783.4:c.1348A>G	NP_689996.4:p.Ser450Gly
NR_109778.1:n.1270A>G
XM_011511734.1:c.1468A>G	XP_011510036.1:p.Ser490Gly
XM_011511735.1:c.1426A>G	XP_011510037.1:p.Ser476Gly
XM_011511736.1:c.1390A>G	XP_011510038.1:p.Ser464Gly
XM_011511744.1:c.*80A>G	XP_011510046.1:n.*80A>G
XM_011511750.1:c.*15A>G	XP_011510052.1:n.*15A>G
XM_011511754.1:c.907A>G	XP_011510056.1:p.Ser303Gly
XM_011511755.1:c.898A>G	XP_011510057.1:p.Ser300Gly
XM_011511756.1:c.895A>G	XP_011510058.1:p.Ser299Gly
XR_923004.1:n.1980A>G
XR_923007.1:n.1690A>G
XR_923011.1:n.1791A>G
NM_001352824.1:c.787A>G	NP_001339753.1:p.Ser263Gly
XM_011511734.2:c.1468A>G	XP_011510036.1:p.Ser490Gly
XM_011511735.2:c.1426A>G	XP_011510037.1:p.Ser476Gly
XM_011511736.2:c.1390A>G	XP_011510038.1:p.Ser464Gly
XM_011511744.2:c.*80A>G	XP_011510046.1:n.*80A>G
XM_011511750.3:c.*15A>G	XP_011510052.1:n.*15A>G
XM_011511756.2:c.895A>G	XP_011510058.1:p.Ser299Gly
XM_024453102.1:c.1240A>G	XP_024308870.1:p.Ser414Gly
XR_001738918.2:n.1722A>G
XR_001738919.2:n.1656A>G
XR_923004.3:n.1979A>G
XR_923007.3:n.1689A>G
XR_923011.3:n.1790A>G
NM_152783.5:c.1348A>G MANE Select	NP_689996.4:p.Ser450Gly
NM_001287249.2:c.946A>G	NP_001274178.1:p.Ser316Gly
NM_001352824.2:c.787A>G	NP_001339753.1:p.Ser263Gly
NR_109778.2:n.1219A>G